December 15, 2015

Researchers sequence and assemble first full genome of a living organism using technology the size of smartphone

Dr. Simpson.

Genome sequencers today are extremely powerful devices found in labs around the world (including labs here at OICR). They are reshaping how we see cancer and providing the roadmap for future, more personalized treatments. Most are also extremely large – about the size of a small oven – expensive and stationary.

But new technology is emerging that will change this. A device called the MinIONTM, which has been developed by Oxford Nanopore Technologies over the last decade, is a sequencer that fits in the palm of your hand and can be plugged into a laptop using a conventional USB cable, like you would plug in a camera or a phone. The technology is still in early stages, but has enormous potential for genomic sequencing and, eventually, for human health.

Now, in a paper published in Nature Methods in June, Dr. Jared Simpson from OICR’s Informatics and Biocomputing team, in collaboration with partners in the U.K., has brought the device one major step closer to the clinic.

Eventually we’ll be able to use these methods to sequence a human genome. And eventually we’d like to apply it to human cancers…That’s really the future of the technology

Simpson and colleagues sequenced and assembled the first full genome of a living organism, the bacteria Escherichia Coli (e. coli.) using the MinION, the first time this has been done with a portable device. This is considered a major benchmark as the methods he devised lay the groundwork for using the device to sequence increasingly more complex organisms.

“Right now we’ve sequenced a bacterial genome,” Simpson says, “but eventually we’ll be able to use these methods to sequence a human genome. And eventually we’d like to apply it to human cancers. That’s really the future of the technology.”

Simpson says that because of the device’s small size, one day the sequencer could be a standard piece of equipment in a doctor’s office or clinic to give patients a rapid view of their genome, rather than having to send it off for analysis.

Eventually the goal is that you could pipette samples right into the sequencer, with no need for wet lab work and no sample preparation required – both currently major aspects of sequencing genomes on current technologies.

In the meantime, Simpson has been receiving requests from researchers who have sequenced other genomes using the technology and want assistance with assembling them. “Already we are giving scientists in the community software they can use,” he says. “A lot of people are quite keen on this technology and excited for it to become more widespread.”

For more on the technology

Read the news release >
See the abstract from Nature Methods here >